دورية أكاديمية
Multiple tumors due to mosaic genome-wide paternal uniparental disomy
| العنوان: | Multiple tumors due to mosaic genome-wide paternal uniparental disomy |
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| المؤلفون: | Postema, FAM, Bliek, J, van Noesel, C.J.M., van Zutven, L., Oosterwijk, J.C. (Jan), Hopman, S.M.J. (Saskia), Merks, J.H.M. (Johannes), Hennekam, R.C.M. (Raoul) |
| المصدر: | Pediatric Blood & Cancer vol. 66 no. 6 |
| سنة النشر: | 2019 |
| المجموعة: | RePub - Publications from Erasmus University, Rotterdam |
| مصطلحات موضوعية: | body asymmetry, paternal uniparental disomy, syndrome, tumors |
| الوصف: | Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith–Wiedemann syndrome. In addition, they can develop multiple benign and malignant tumors throughout life. Routine molecular diagnostics may not detect the (characteristic) low level of mosaicism, and the diagnosis is likely to be missed. Genetic counseling and a life-long alertness for the development of tumors is indicated. We describe the long diagnostic process of a patient who already had a tumor at birth and developed multiple tumors in childhood and adulthood. Furthermore, we offer clues to recognize the entity |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | http://repub.eur.nl/pub/116914Test; urn:hdl:1765/116914 |
| DOI: | 10.1002/pbc.27715 |
| الإتاحة: | https://doi.org/10.1002/pbc.27715Test http://repub.eur.nl/pub/116914Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.51C713BE |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/pbc.27715 |
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